Cienciaes.com: Research does not end with the genome

2021-02-17 20:26:22

The first draft of the human genome was completed in the year 2000 and presented to the world with great fanfare, among others, by the then presidents of the United States, Bill Clinton and British Prime Minister Tony Blair, it was an extraordinary event that some reached to compare with the arrival of the human being on the Moon or with the discovery of America. At that time, Jorge Laborda was writing an article analyzing the repercussions that this discovery would have in the future. A few months ago it was 20 years since that announcement and it is a good time to ask yourself, has the reality of Research and Science reached the expectations generated by the sequencing of the Human Genome?

In that article, Jorge said, among other things, the following:

The enthusiasm caused by the announcement of the complete information on the base sequence of the human genome is not unjustified. Some have compared it to the arrival of man on the Moon, or to the discovery of America. Even some sensationalist opinions say that, from this moment on, we will be able to cure cancer, HOWand live, if not forever, if not until dying of boredom at “deseohundred” years.

But let’s not rest on our laurels. Research does not end with the genome, but is now more important than ever. And the thing is that there are obstacles, some of them serious, in putting the information acquired about the human genome into medical practice. Let’s visit some. The complete genome of the virus has been known for some time. HOW, without for this reason we have yet found a cure for the terrible disease it causes. It is also known that many genetic diseases are caused by errors in a single gene. One that impresses me the most is Huntington’s disease, a fatal inherited neurodegenerative disease. A defective gene causes, from the age of forty, a progressive madness, together with uncontrolled movements and emotional disturbances until death occurs. The gene has been identified and sequenced and the mutation has also been identified without this having been able to remedy the disease. But diseases of genetic origin are not only caused by mutations in a single gene. If we have problems finding solutions to monogenetic diseases, it is reasonable to assume that we will have even more problems in the case of polygenetic diseases, due to the faulty interaction of many genes with each other. Nor should we forget other factors, which we could summarize in space and time. Not all of our genes work at the same time, and neither do our genes work the same throughout our bodies. Some only do so in certain tissues and cells. Finally, depending on the environment in which we find ourselves, our diet, our lifestyle, we may be more or less susceptible to a gene mutation degenerating into a disease. For this reason, it is intended to move towards personalized medicine, which will require a large number of studies. In this way, an attempt will be made to find out all the genetic strengths and weaknesses of an individual and apply this knowledge to the health problems that the individual has or may develop in order to adequately treat or prevent them. Some may believe that, once the cause of the disease is known, of our genetic weaknesses, whether they are due to one or several genes, it will be a matter of time before we find drugs that cure the disease or suppress the weaknesses caused by our bad genes. Knowledge about the genome will make it possible, for example, to genetically modify laboratory animals to cause the genetic disease and to experiment with them until a cure is found. Genes make the molecular pieces, the proteins, that fit together to form the machinery of cells and ultimately our body. We know that if our car engine has a faulty part, it doesn’t run well. The same thing happens to our cells and to our body if it contains faulty genes. In the same way that a defective part of a mechanical engine must be replaced for the proper functioning of the engine as a whole, the same thing happens with the parts of the engines of life. But medicines cannot replace defective parts. It would be like thinking that a car engine with a defective part will run smoothly if we change the oil and add better gasoline. The drugs available to us work, in general, by modifying the functioning of the normal parts of the vital motors, but they cannot replace or fix, in most cases, the defective parts. Hence the attempts to develop so-called gene therapy, which, if successful, will mean having molecular spare parts for the human body. But replacing one faulty gene with another may not be enough. The gene needs to be put to work properly and produce all the proteins that are expected of it. A gene rarely produces a single variety of protein. Through a cut and paste procedure, the ARN A messenger derived from a gene, which contains the information to produce proteins, is processed to give rise to different proteins that may be present in some tissues but not in others and may even have opposite functions. Recently, a gene has been discovered, involved in the formation of synaptic connections, which can originate more than 38,000 different proteins; many primitive organisms possess more proteins than genes. Little or nothing is known about the way in which these varieties of protein are selected from a single gene for their production. So, although today the sciences anticipate that it is outrageous, we have not reached the end, far from it, and it will be better that this phrase by Zarzuela continue to be valid for many years to come, if we want to take advantage of the progress made in the present in the future. .

This was said more than 20 years ago and is still rigorously current. It does not seem that decades after the sequencing of the human genome, with tens of thousands of genomes sequenced today, we have made great progress in curing diseases of genetic origin. It is probably true that we know the causes better, but understanding the reasons does not always imply being able to intervene on them to find a solution. We still have a lot to discover and new technologies to develop in order to be able to intervene adequately and cure diseases that, decade after decade, continue to be incurable.

Works by Jorge Laborda.

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